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https://hdl.handle.net/2440/6919
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Type: | Journal article |
Title: | Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene |
Author: | Sampson, J. Maheshwar, M. Aspinwall, R. Thompson, P. Cheadle, J. Ravine, D. Roy, S. Haan, E. Bernstein, J. Harris, P. |
Citation: | American Journal of Human Genetics, 1997; 61(4):843-851 |
Publisher: | CELL PRESS |
Issue Date: | 1997 |
ISSN: | 0002-9297 1537-6605 |
Statement of Responsibility: | Julian R. Sampson, Magitha M. Maheshwar, Richard Aspinwall, Peter Thompson, Jeremy P. Cheadle, David Ravine, Sushmita Roy, Eric Haan, Jay Bernstein, and Peter C. Harris |
Abstract: | Tuberous sclerosis is an autosomal dominant trait characterized by the development of hamartomatous growths in many organs. Renal cysts are also a frequent manifestation. Major genes for tuberous sclerosis and autosomal dominant polycystic kidney disease, TSC2 and PKD1, respectively, lie adjacent to each other at chromosome 16pi3.3, suggesting a role for PKD1 in the etiology of renal cystic disease in tuberous sclerosis. We studied 27 unrelated patients with tuberous sclerosis and renal cystic disease. Clinical histories and radiographic features were reviewed, and renal function was assessed. We sought mutations at the TSC2 and PKD1 loci, using pulsed field- and conventional-gel electrophoresis and FISH. Twenty-two patients had contiguous deletions of TSC2 and PKD1. In 17 patients with constitutional deletions, cystic disease was severe, with early renal insufficiency. One patient with deletion of TSC2 and of only the 3' UTR of PKD1 had few cysts. Four patients were somatic mosaics; the severity of their cystic disease varied considerably. Mosaicism and mild cystic disease also were demonstrated in parents of 3 of the constitutionally deleted patients. Five patients without contiguous deletions had relatively mild cystic disease, 3 of whom had gross rearrangements of TSC2 and 2 in whom no mutation was identified. Significant renal cystic disease in tuberous sclerosis usually reflects mutational involvement of the PKD1 gene, and mosaicism for large deletions of TSC2 and PKD1 is a frequent phenomenon. |
Keywords: | Chromosomes, Human, Pair 16 Humans Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Tuberous Sclerosis Proteins Tumor Suppressor Proteins Repressor Proteins Electrophoresis, Gel, Pulsed-Field In Situ Hybridization, Fluorescence Chromosome Mapping Restriction Mapping Karyotyping Nuclear Family Gene Rearrangement Sequence Deletion Mutation Mosaicism Genes, Tumor Suppressor Introns Adolescent Adult Child Child, Preschool Infant Female Male TRPP Cation Channels Chromosome Inversion Tuberous Sclerosis Complex 2 Protein |
Rights: | © 1997 by The American Society of Human Genetics. All rights reserved. |
DOI: | 10.1086/514888 |
Published version: | http://dx.doi.org/10.1086/514888 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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